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Dandy-Walker Syndrome

DWS

Malformations of the central nervous system are the second most common congenital anomalies, the highest being congenital heart disease. [1] With the advent of routine obstetric ultrasounds and anomaly scans the diagnosis are made in the antenatal period. Dandy-Walker syndrome is are complex developmental anomaly of the fourth ventricle [2].


Presentation

There are a number of manifestations of the syndrome and they can be variable. The children usually present with slow motor development with delayed milestones. They may also show symptoms of increased intracranial pressure due to hydrocephalus, and these include irritability, vomiting and convulsions. They also present with macrocrania.

The bulk of clinical signs will be noted in the central nervous system with significant signs of cerebellar dysfunction, such as ataxia and nystagmus. Other symptoms such as bradypnea may be present.

The other signs and symptoms are variable, depending on the extent of other malformations in the organ systems such as cardiac symptoms [8].

Difficulty Walking
  • However, many individuals will still continue to have difficulty walking and have poor balance. Another treatment is to give medication to reduce seizures.[medfriendly.com]
Microdontia
  • ., generalized microdontia, conical tooth, transposition, and congenitally missing teeth) were observed. This report is the first to describe the oral findings and dental treatment of DWS.[ncbi.nlm.nih.gov]
Cutis Laxa
  • We report on a 17-y-old girl with inherited cutis laxa, immunodeficiency and Dandy-Walker syndrome.[ncbi.nlm.nih.gov]
Mandibular Prognathism
  • We present a 23-year-old patient who had a severe dentofacial deformity with mandibular prognathism and extremely undeveloped maxillary bone resulting in palatopharyngeal and velopharyngeal dysfunction with complete lack of soft palate function resulting[ncbi.nlm.nih.gov]
Seizure
  • A 19-year-old female was referred with seizures and the Dandy-Walker syndrome. We continued the medical workup and also treated the patient with psychotherapy. The patient's symptoms gradually abated, however, the headaches remained.[ncbi.nlm.nih.gov]
  • Seizures, hearing or visual problems, various CNS abnormalities, and systemic abnormalities were associated with poor intellectual development and could be used to predict intellectual outcome.[ncbi.nlm.nih.gov]
  • A young boy presented with mental retardation and seizures with extensive hairy naevi. After a fluctuating clinical course over the next 2 years, he worsened rapidly with signs of rising intracranial pressure.[ncbi.nlm.nih.gov]
  • It is a rare multiorgan disease which includes hypoketotic hypoglycemia, severe hepatomuscular symptoms, cardiac abnormalities, seizures and lethargy, as well as dysmorphic features.[ncbi.nlm.nih.gov]
  • Spastic paraplegia and seizures may be present. In 10-20% of individuals with DWS, signs and symptoms do not appear until late childhood or adulthood.[patient.info]
Irritability
  • They may also show symptoms of increased intracranial pressure due to hydrocephalus, and these include irritability, vomiting and convulsions. They also present with macrocrania.[symptoma.com]
  • In older children, symptoms of increased intracranial pressure such as irritability, vomiting and convulsions and signs of cerebellar dysfunction such as unsteadiness and lack of muscle coordination or jerky movements of the eyes may occur.[urmc.rochester.edu]
  • In older children, symptoms of increased intracranial pressure include: irritability vomiting convulsions signs of cerebellar dysfunction, such as unsteadiness, lack of muscle co-ordination, or jerky movements of the eyes increased head circumference[onlymyhealth.com]
  • Symptoms may include: Increased head size Bulging of the back of the skull Impaired development of normal speech and language Slow motor development Irritability Headache Vomiting Unsteadiness, especially with walking Lack of muscle coordination Jerky[winchesterhospital.org]
  • Infants • Slow motor development • Progressive enlargement of the skull Older Children • Increase of brain pressure • Irritability • Vomiting • Convulsions • Bulging at back of skull • Cerebellar dysfunction: problems with portion of brain controlling[parentingspecialneeds.org]
Nystagmus
  • Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise.[hon.ch]
  • The bulk of clinical signs will be noted in the central nervous system with significant signs of cerebellar dysfunction, such as ataxia and nystagmus. Other symptoms such as bradypnea may be present.[symptoma.com]
  • In infants, symptoms can include irritability, seizures, vomiting, abnormal breathing, nystagmus (jerky eye movements), and slow motor development.[encyclopedia.com]
  • In infants, symptoms can include irritability, seizures , vomiting, abnormal breathing, nystagmus (jerky eye movements), and slow motor development.[encyclopedia.com]
Cerebellar Ataxia
  • Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessive disorder, which is characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness, and delayed psychomotor development.[ncbi.nlm.nih.gov]
  • Neurological examination was unremarkable without cerebellar ataxia or psychomotor retardation .the patient was submitted to CT scan and magnetic resonance imaging (MRI) of the brain that revealed agenesis of cerebellar vermis and large posterior fossa[panafrican-med-journal.com]
  • ataxia ホームズ型小脳失調症 Holter ホルター Holter electrocardiograph ホルター心電計 Holt-Oram ホルト・オーラム Holt-Oram syndrome ホルト・オーラム症候群 Holtzman ホルツマン Holtzman inkblot test ホルツマン・インクしみテスト Holzknecht ホルツクネヒト Holzknecht space ホルツクネヒト腔 Horner ホルネル Horner-Spalding sign ホルネル・スパルディング[jams.med.or.jp]
Cerebellar Sign
  • A 35-year-old woman presented with symptoms of increased intracranial pressure and cerebellar signs. After excision of the cyst wall of the posterior fossa. The patient recovered completely.[ncbi.nlm.nih.gov]
  • In both patients there was normal motor and intellectual development during childhood, but as adults they had gradual evolution of brain stem and cerebellar signs and obstructive hydrocephalus.[ncbi.nlm.nih.gov]
  • Despite severe cerebellar abnormalities, cerebellar signs are not common. Many have a sporadic inheritance with some possibly having an autosomal dominant or X-linked inheritance.[radiopaedia.org]

Workup

Central nervous system structures should be evaluated in all basic obstetric ultrasounds. If there are any noted malformations then neurosonography should be performed by medical professionals with expertise in this area.

Laboratory diagnosis

Genetic testing is done for the known genes if a genetic component is suspect, due to higher recurrence rates in siblings. Beyond this there routine investigations are indicated and dependent on the other malformations noted.

Imaging

Ultrasonography during pregnancy is the best available option, but if there is uncertainty then magnetic resonance imaging may provide additional information that may influence subsequent decisions concerning the pregnancy. For the children who have the suspected malformations, magnetic resonance imaging is the gold standard in making the diagnosis. CT scans are not advised due to the radiation. Other modalities such as echocardiography may be used to assess the associated cardiac anomalies [9].

Posterior Fossa Cysts
  • Patients with DWS-related hydrocephalus often require combinations of shunting systems to effectively drain both the supratentorial ventricles and posterior fossa cyst.[ncbi.nlm.nih.gov]
  • Magnetic resonance imaging demonstrated a large posterior fossa cyst between the fourth ventricle and occipital meningocele, but the aqueduct was patent and there was no sign of hydrocephalus.[ncbi.nlm.nih.gov]
  • This defect connected the fourth ventricle to a posterior fossa cyst in four cases and to an occipital meningocele in one case. In three cases the diagnosis was made prior to viability, and the parents elected termination of pregnancy.[ncbi.nlm.nih.gov]
  • In all patients, communication existed between the posterior fossa cyst and the occipital meningocele. In 2 patients, the occipital meningocele disappeared after cerebrospinal fluid shunting and never required surgical repair.[ncbi.nlm.nih.gov]
  • Magnetic resonance imaging revealed the bilateral lateral ventricle, the fourth and third ventricle significantly enlarged with severe obstructive hydrocephalus, a huge posterior fossa cyst connected with the fourth ventricle, and hypoplastic vermis.[ncbi.nlm.nih.gov]
Karyotype Abnormal
  • Because the syndrome is associated with an increased risk for fetal karyotype abnormalities, amniocentesis can be offered after prenatal diagnosis.[urmc.rochester.edu]
Hypoketotic Hypoglycemia
  • It is a rare multiorgan disease which includes hypoketotic hypoglycemia, severe hepatomuscular symptoms, cardiac abnormalities, seizures and lethargy, as well as dysmorphic features.[ncbi.nlm.nih.gov]
Gliosis
  • Retinal folds are the most common ocular finding described to date, although retinal hypopigmentation, dysplasia, and areas of hemorrhage and gliosis are also found in trisomy 18.[ncbi.nlm.nih.gov]

Treatment

The treatment is mostly supportive with surgical interventions being used to reduce the hydrocephalus. Other supportive care includes occupational and physical therapy and special education. Certain malformations may require corrective surgery such as cardiac or maxillofacial malformations.

Prognosis

Prognosis is dependent on the severity of the malformations that are present and the associated malformations such as cardiac defects. Individuals with more significant malformations having worse prognosis and outcomes.

Etiology

The malformations in Dandy-Walker syndrome are due to defects in early embryonic development of the cerebellum and its surrounding structures. The characteristic triad includes complete or near complete agenesis of the cerebellar vermis, cystic dilatation of the fourth ventricle and an enlarged posterior fossa with displacement of the above tentorium and torcular herophili upwards. There are many possible causes of the Dandy-Walker syndrome, but it has been noted that chromosomal aneuploidy and various exposures such as rubella and alcohol during early pregnancy (this is thought to account for most of the cases) are common etiologic factors. There are also a fee gene deletions associated with the syndrome, such a chromosome 3q2 deletions, the location of the ZIC1 and ZIC4 genes [4] [5].

Epidemiology

Dandy-Walker syndrome is rare with estimates ranging from 1 in 25,000 to 1 in 30,000 newborns. It is more predominant in female babies. Recurrence in siblings may be high when there is a genetic component like a single gene aberration, but the recurrence maybe associated with persistence of environmental factors. It accounts for approximately 1 to 4% of the cases of hydrocephalus [6].

Sex distribution
Age distribution

Pathophysiology

The vermis completes its formation at about 13 to 14 postmenstrual weeks (or as late as the 16th week). Insults to the development of varying degree are believed to contribute to the genesis of the malformation. There have been a number of theories, but dysembryogenesis of the hindbrain is thought to be the insisting event that leads to the arrest in the formation the hindbrain, with lack in the fusion or the cerebellar hemispheres [7].

Prevention

Timely obstetric ultrasounds and genetic testing for suspect inherited cause should be conducted to make decisions about the management of the pregnancy. Genetic counselling is needed for those families found to have the genetic aberrations. Avoidance of identified environmental causes such as alcohol is necessary. Vaccination against rubella to all females in their child bearing years is recommended [10].

Summary

The Dandy-Walker syndrome is a rare central nervous system congenital malformation that primarily affect the fourth ventricle (cystic dilatation) and cerebellar vermis, with enlargement of the posterior fossa. The Dandy-Walker syndrome may include malformations of the genital-urinary system, cardiac system and face and polydactyly [3].

Patient Information

Definition: Dandy-Walker syndrome is a condition that causes abnormal brain development, during the early parts of pregnancy. It primarily affects the part of the brain that coordinates movement, the cerebellum. There may be other malformations in the heart, face and digits.

Cause: It may be caused by genetic problems, but this account for a few cases. Most of the cases are thought to be caused by environmental toxins and some infections. These factors include alcohol ingestion during pregnancy. Infections such as rubella in the first trimester are thought to be a cause as well.

Symptoms: The major symptoms are due to increased pressure in the head due to fluid accumulation. This can be evident by a large head, irritability, vomiting, and slow mental development and coordination. Other symptoms such as a staggering gate may be noted. Hyperactivity may also be evident.

Diagnosis: The diagnosis can be made on a routine obstetric ultrasound but more specialized doctors should be the ones doing the scans if the malformation is suspected in previous scans. In young children magnetic resonance imaging of the brain is the best modality. Genetic tests may be also done to look for the genes that cause this syndrome, because if present there is an increased risk of following pregnancies having the malformations.

Treatment: Treatment includes reliving pressure in the brain by placing a tube in the brain and diverting the fluid. The rest of the treatment is supportive and includes occupational and physical therapy. The children may require special schools to assist with their learning difficulties. Genetic counselling may be required in families found to have a gene problem causing Dandy-Walker syndrome.

References

Article

  1. International Society of Ultrasound in Obstetrics & Gynecology Education Committee. Sonographic examination of the fetal central nervous system: guidelines for performing the 'basic examination' and the 'fetal neurosonogram'. Ultrasound Obstet Gynecol 2007; 29:109.
  2. Russ PD, Pretorius DH, Johnson MJ. Dandy-Walker syndrome: a review of fifteen cases evaluated by prenatal sonography. Am J Obstet Gynecol 1989; 161:401.
  3. Hirsch JF, Pierre-Kahn A, Renier D, et al. The Dandy-Walker malformation. A review of 40 cases. J Neurosurg 1984; 61:515.
  4. Bromley B, Nadel AS, Pauker S, et al. Closure of the cerebellar vermis: evaluation with second trimester US. Radiology 1994; 193:761.
  5. Phillips JJ, Mahony BS, Siebert JR, et al. Dandy-Walker malformation complex: correlation between ultrasonographic diagnosis and postmortem neuropathology. Obstet Gynecol 2006; 107:685.
  6. Osenbach RK, Menezes AH. Diagnosis and management of the Dandy-Walker malformation: 30 years of experience. Pediatr Neurosurg 1992; 18:179.
  7. Bromley B, Nadel AS, Pauker S, et al. Closure of the cerebellar vermis: evaluation with second trimester US. Radiology 1994; 193:761.
  8. Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F. Dandy-Walker malformation: prenatal diagnosis and prognosis. Childs Nerv Syst. 2003 Aug;19 (7-8):484-9. Epub 2003 Jul 16.
  9. Fileni A, Colosimo C Jr, Mirk P, et al. Dandy-Walker syndrome: diagnosis in utero by means of ultrasound and CT correlations. Neuroradiology 1983; 24:233.
  10. Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ. Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet. 2004 Oct;36(10):1053-5.

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Last updated: 2019-07-11 20:58